| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.18171764delinsCCAGGCCCGTGCAGCTC | CA16044419 | MYO15A | n.2613delinsCCAGGCCCGTGCAGCTC n.2151delinsCCAGGCCCGTGCAGCTC c.2001delinsCCAGGCCCGTGCAGCTC (p.Gln667HisfsTer?) n.2943delinsCCAGGCCCGTGCAGCTC c.10209delinsCCAGGCCCGTGCAGCTC (p.Gln3403HisfsTer?) n.2640delinsCCAGGCCCGTGCAGCTC n.1659delinsCCAGGCCCGTGCAGCTC n.978delinsCCAGGCCCGTGCAGCTC c.751delinsCCAGGCCCGTGCAGCTC c.629delinsCCAGGCCCGTGCAGCTC (p.Ser210ThrfsTer?) c.10203delinsCCAGGCCCGTGCAGCTC (p.Gln3401HisfsTer?) c.10149delinsCCAGGCCCGTGCAGCTC (p.Gln3383HisfsTer?) c.10212delinsCCAGGCCCGTGCAGCTC (p.Gln3404HisfsTer?) | ClinVar dbSNP |
| 17 | g.18171764G= | CA2250897992 | MYO15A | n.2613G= n.2151G= c.2001G= (p.Gln667=) n.2943G= c.10209G= (p.Gln3403=) n.2640G= n.1659G= n.978G= c.751G= c.629G= (p.Ser210=) c.10203G= (p.Gln3401=) c.10149G= (p.Gln3383=) c.10212G= (p.Gln3404=) | dbSNP |